E. Mamolini

Isonymy and the genetic structure of Switzerland I. The distributions of surnames

The surname distribution of the population of Switzerland was studied using a sample of 1,702,000 private users registered for the year 1994 in the Helvetic Telephone Directory. These users were distributed in four linguistic areas, in 26 Cantons and 271 Communes of the Confederation. Estimates of unbiased random isonymy, of Fishers alpha, an indicator of abundance of surnames converging to the allele effective number in standard genetic polymorphisms, and of Karlin-McGregors v, an indicator of immigration rates, were calculated for each Commune, each Canton, each linguistic area and for the whole Confederation. The Commune with the highest value of alpha was Geneva (alpha = 5312) followed by Versoix (3713) and by the Communes of Vaud on the north shore of Lake Leman, Chavannes (3381), Montreux (3200), Nyon (3114) and Lausanne (3109). The Italian-speaking Communes of the Ticino were next. The lowest value (alpha = 29) was observed in Poschiavo, south of the Berninapass; alpha = 39 was observed in Einsiedeln (Schwyz); then Mels and Widnau (62 and 67, Canton of St Gallen), Frutingen in Bern (72), and Appenzell (80). Accordingly, the highest consanguinity values were observed in the Grisons and in the nucleus of the founding Cantons, while the lowest were observed in the Cantons of Geneva and Vaud, preferential areas of immigration to Switzerland from abroad. The effect of subdivision on isonymy is large at the Commune level, and decreases in Cantons and linguistic groups. French and Italian languages indicate minor, German and Romanisch major inbreeding.

Isonymy and the genetic structure of Switzerland. II. Isolation by distance

Isolation by distance in Switzerland was detected comparing the surname distributions between Cantons. The decay of isonymy with geographic distance between Cantons was consistent with Malecots exponential decay of kinship. Laskers distance was defined as the negative value of the logarithm of isonymy between localities, and it was found that it is linearly and significantly correlated with the log of geographic distance, both within and between languages. The peculiar geographic and linguistic structure of the Confederation, where mountain barriers exist at short distances separating different languages, might explain the rapid changes in surname similarity. It was predicted that the frequency of markers linked to the Y chromosome would show a similar association with distance in Switzerland.

Elements of the surname structure of Austria

The isonymy structure of Austria was studied using the surname distributions in 1081002 private telephone users selected from about 4000000 registered in a 1996 commercial CD-ROM, which contains all Austrian users. The sample was distributed in 120 towns representing an approximately uniform distribution over the country. The number of different surnames found in the whole analysis was 140766. Laskers distance, the negative value of the logarithm of isonymy between localities, was found to be linearly and significantly correlated with the log of geographic distance, with r = 0.565 +/- 0.011. A dendrogram was built with the matrix of isonymy distance, using the Unweighted Pair-Group Method using Arithmetic averages, UPGMA. It separates the Austrian towns in five main clusters, one along the central portion of the country, another one which occupies the northern region of central Austria; then comes a third cluster at the north-eastern part, a fourth cluster in the western region, and finally a small cluster towards the border with Slovenia. Within each, small subclusters with specific geographic distributions could be delimited. The main clusters correspond fairly well to the classic regions of Austria. The results were compared with those obtained in similar analyses of Switzerland, Germany, Italy and Venezuela. From the present analysis, isolation by distance emerges clearly, and it is stronger than in Germany but smaller than that observed in Italy, Switzerland and Venezuela. The random component of inbreeding estimated from isonymy, at the level of resolution used here, indicates that the inbreeding level in Austria is rather uniform.

Isonymy structure of USA population

The isonymy structure of the 48 states of the continental United States of America was studied using the surname distributions of 18 million telephone users, distributed in 247 towns. The shortest linear distance between nearest neighbor towns included in the sample was 12.0 km. The largest distance was 4,577 km. The number of different surnames found in the whole analysis was 899,585. Laskers distance was found to be significantly but weakly correlated with the geographic distance, with r = 0.21 +/- 0.01. A dendrogram of the 48 states was built from the matrix of isonymy distances: it divides the US into several clusters, in general correlated with geography. A notable exception is California and New Jersey, which cluster together. Wisconsin is separated from all other states. An important cluster is formed by Texas, Colorado, New Mexico, Nevada, and Arizona, together with Illinois and Florida. It was observed that Hispanic surnames are among the most frequent in Illinois, as they are in New Jersey and California. No main distinction among the states clearly attributable to surnames of French origin was detected; however, New Hampshire, Vermont, and Maine which have a considerable number of these surnames belong to the same northeastern cluster. From the present analysis, the great mobility of the US population emerges clearly, and it seems relevant that the practical absence of isolation by distance is seen also considering only small towns. It appears that groups of different origin are well-mixed over the whole area of the United States. The values of isonymy indicate that the south-central area of the USA has the highest level of inbreeding. In fact, the heterogeneity in surname composition is greater in the coastal areas, particularly on the East Coast, than anywhere else in the USA.

Linkage disequilibrium analysis of case–control data: an application to generalized aggressive periodontitis

Several studies have shown a role for the involvement of interleukin (IL)-1 gene cluster polymorphisms in the risk of periodontal diseases. In the present study, we tested polymorphisms, derived from genes of the IL-1 cluster, for association with generalized aggressive periodontitis (GAP) through both allelic association and by constructing a linkage disequilibrium (LD) map of the 2q13–14 disease candidate region. The IL-1RN (VNTR) genotype distribution observed was significantly different in GAP and control subjects (P=0.019). We also observed some evidence for an association between GAP and the IL-1B+3953 polymorphism (P=0.039). The pattern of association in the region, represented as an LD map, identifies a recombination hot area between the IL-1B+3953 and IL-1B−511 polymorphisms. Multilocus modelling of association with disease gives a location for the peak association at the IL-1B+3953 marker, although support for the peak is not significant. Haplotype analysis identifies a IL-1B+3953–IL-1B−511 haplotype as having the lowest P-value in the region. Recognition of the presence of a recombination hot area between the IL-1B+3953 and IL-1B−511 polymorphisms will have an important bearing on future efforts to develop higher resolution SNP analysis in this region for both this and other diseases for which this cluster is implicated.

Microevolution in Ferrara: Isonymy 1890–1990

The distribution of surnames in the population of the town of Ferrara, as it existed in the memory banks of the Municipality Computer in June 1990, was studied by sex, age and place of birth of residents. Random isonymy was studied separately in persons born before 1901, and in persons born in the nine decades thereafter, ending with the period 1981-90. Isonymy was higher in the older age groups studied. Also other indicators of the abundance of surnames in the distribution, the common ecological indexes derived from entropy, were calculated and compared between age groups. It was found that redundancy, as isonymy, is larger in older age classes than in younger classes. Surname effective number was defined as the inverse of isonymy corrected for sample size, and it was observed that it is practically identical with Fishers alpha. It was then possible to separate random isonymy into two components, so that for sample size N its formulation becomes Ir = 1/alpha + 1/N It was found that in Ferrara alpha increased significantly in time, indicating enrichment of surnames in the population in the century 1890-1990.

Isolation by distance in Germany.

ing surname distributions of private telephone users registered in a 1996 commercial CD-ROM that contains all the users in the country. We have the preliminary results from a sample of more than five million surnames of users distributed in 106 towns selected on a geographical basis. Germany was subdivided into 50 adjacent rectangles of 115 × 80 kms; at least the largest town in the rectangle was selected and the private telephone users in its district were downloaded from the CD-ROM and included in the analysis. The number of different surnames found in the whole analysis was 462580. Lasker’s distance, the negative value of the logarithm of isonymy between localities, was found to be linearly and significantly correlated with geographical distance, with r = 0.51 ± 0.010 (Fig. 1). A dendrogram was built from the matrix of isonymy distance, by using the UPGMA method. It separates the German towns in two main clusters, one in the southern half of the country and the other in the northern; within each half, small subclusters with specific geographical distributions can be delimited. The two main clusters correspond well to the north-south division of German sublanguages (Niederand Mitteldeutsch in the North vs Frankish-Alemannisch in the South). The other clusters are related to minor sublanguages. Comparisons with the results of a previous analysis show that isolation by distance in Germany is less strong than in Switzerland (Barrai et al. 1996; Rodriguez-Larralde et al. 1997) and indicate that this country has a homogeneous isonymy structure. The random component of inbreeding estimated from isonymy indicates that the eastern area of the nation is on average more inbred than the western area. Our work is supported by MURST grants 60% and 40%, by Agreements 132.36.1 (Italy) and PI-117 (Venezuela) CNR/CONICIT 1995–97 and by CNR grant No. 95.02119.CT04.

Gene--gene interaction among cytokine polymorphisms influence susceptibility to aggressive periodontitis.

Aggressive periodontitis (AgP) is a multifactorial disease. The distinctive aspect of periodontitis is that this disease must deal with a large number of genes interacting with one another and forming complex networks. Thus, it is reasonable to expect that gene–gene interaction may have a crucial role. Therefore, we carried out a pilot case-control study to identify the association of candidate epistatic interactions between genetic risk factors and susceptibility to AgP, by using both conventional parametric analyses and a higher order interactions model, based on the nonparametric Multifactor Dimensionality Reduction algorithm. We analyzed 122 AgP patients and 246 appropriate periodontally healthy individuals, and genotyped 28 polymorphisms, located within 14 candidate genes, chosen among the principal genetic variants pointed out from literature and having a role in inflammation and immunity. Our analyses provided significant evidence for gene–gene interactions in the development of AgP, in particular, present results: (a) indicate a possible role of two new polymorphisms, within SEPS1 and TNFRSF1B genes, in determining host individual susceptibility to AgP; (b) confirm the potential association between of IL-6 and Fc γ- receptor polymorphisms and the disease; (c) exclude an essential contribution of IL-1 cluster gene polymorphisms to AgP in our Caucasian-Italian population.

IL-1 Gene Cluster is Not Linked to Aggressive Periodontitis

The interleukin-1 (IL-1) gene family has been associated with susceptibility to periodontal diseases, including aggressive periodontitis (AgP); however, the results are still conflicting. The present study investigated the association between IL-1 genes and AgP using 70 markers spanning the 1.1-Mb region, where the IL-1 gene family maps, and exploring both the linkage disequilibrium (LD) and the haplotype structure in a case-control study including 95 patients and 121 control individuals. No association between AgP and IL1A, IL1B, and IL1RN genes was found in either single-point or haplotype analyses. Also, the LD map of the region 2q13–14 under the Malécot model for multiple markers showed no causal association between AgP and polymorphisms within the region (p = 0.207). In conclusion, our findings failed to support the existence of a causative variant for generalized AgP within the 2q13–14 region in an Italian Caucasian population.

Surnames in Siberia: A study of the population of Yakutia through isonymy

We studied the isonymic structure of the Republic of Sakha (Yakutia), in the Russian Federation, using the surname distributions of 491,259 citizens above 18 years registered as residents in 2002. These were distributed in 35 districts and 497 towns and settlements of the Republic. The number of different surnames was 44,625. Matrices of isonymic distances between the 35 districts were tested for correlation with the geographic distance between the population centers of gravity of the districts. We found that, for the whole of Yakutia, Neis distance was correlated with geographic distance (r = 0.693 +/- 0.027). A dendrogram of the 35 districts was built from the distance matrix, using the UPGMA method. The clusters identified by the dendrogram correlate with the geographic position of the districts. The correlation of random inbreeding calculated from isonymy, F(ST), with latitude was positive and highly significant but weak (r = 0.23). So, inbreeding was highest in the Arctic districts, and lowest in the South. Average alpha for 497 towns was 107, for 35 districts it was 311, and for the Republic 433. The value of alpha was higher for Russian than for the local languages. The geographical distribution of alpha, high in the Center and South-East and lower in the North-West, is compatible with the settlement of groups of migrants moving from the South-East toward the center and the North of Yakutia. It is proposed that low-density demic diffusion of human populations results in high inbreeding and may have been a general phenomenon in the early phases of human radiations.